| 雷特综合征与多巴胺系统功能障碍 |
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| 引用本文： | 陆斌,杨灿,熊志奇.雷特综合征与多巴胺系统功能障碍[J].生命的化学,2014(2):166-171. |
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| 作者姓名： | 陆斌 杨灿 熊志奇 |
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| 作者单位： | 中国科学院神经科学研究所,神经科学国家重点实验室,上海200031 |
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| 摘 要： | 雷特综合征(Rett syndrome)属于神经发育障碍类疾病,主要由X性染色体上mecp2基因突变所致,患者多数为女孩。临床症状于出生后6~18个月逐渐显现,主要表现为头部发育缓慢,已获得的语言及手部目的性运动技能消退,智力障碍,呼吸功能障碍及自闭倾向等。多巴胺系统的功能包括运动调节、奖赏学习、情感、内分泌调控以及药物成瘾等多个方面。由于多巴胺系统在运动和精神方面与雷特综合征部分临床症状存在表面相关性,早期有学者根据临床特征提出雷特综合征患者可能存在多巴胺系统功能障碍,但两者之间是否具有实质性的内在联系以及mecp2基因是否会通过影响多巴胺系统导致相关临床症状是目前雷特综合征研究的一个热点。本文将针对雷特综合征与多巴胺系统功能障碍的相关研究进展作一综述。
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| 关 键 词： | 雷特综合征 mecp2基因 多巴胺系统 运动障碍 |
Rett syndrome and dopaminergic system dysfunction |
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| LU Bin,YANG Can,XIONG Zhiqi.Rett syndrome and dopaminergic system dysfunction[J].Chemistry of Life,2014(2):166-171. |
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| Authors: | LU Bin YANG Can XIONG Zhiqi |
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| Institution: | (Institute of Neuroscience, Chinese Academy of Sciences, State Key Laboratory of Neuroscience, Shanghai 200031, China) |
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| Abstract: | Rett syndrome （RTT） is a neurodevelopmental disorder that almost exclusively affects females. Patients with Rett syndrome appear to develop normally up to 6 to 18 months of age. The clinical features include deceleration of head growth, lose of acquired language and purposeful use of hands, mental retardation, breath dysfunction and autism. Dopaminergic system plays important roles in motor control, reward learning, emotion, endocrine and addiction. Based on some overlaps between RTT pathology and motor or psychological phenotypes observed in diseases with dopaminergic dysfunction, researchers propose that dopaminergic system might be abnormal in RTT. This review will focus on how MeCP2 regulates the function of dopaminergic system. |
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| Keywords: | Rett syndrome mecp2 gene dopaminergic system motor dysfunction |
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